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Neuromuscular Disorders-Myopathies PowerPoint Presentation

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Description : Check out this medical PowerPoint presentation titled "Neuromuscular disorders - myopathies" by Radim Mazanec, MD, PhD.
This medical PowerPoint presentation talks about Myopathies, a group of neuromuscular disorders that specifically affect the muscles.
Neuromuscular disorders are conditions that affect the nerves that control the muscles, the muscles themselves, or the connection between nerves and muscles.
Myopathies can be inherited or acquired and can vary in severity from mild to severe. Some common types of myopathies include Muscular dystrophy, Myasthenia gravis, Inflammatory myopathies, Metabolic myopathies and Congenital myopathies.

Tags : Myopathies, neuromuscular disorders, Muscular dystrophy, Myasthenia gravis, Inflammatory myopathies, Metabolic myopathies, Congenital myopathies, Neurology PowerPoint presentation

Published on : Mar 21, 2023 | Views : 810 | Downloads : 3

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Slide 1-

Neuromuscular disorders - myopathies Radim Mazanec, MD, PhD Neuromuscular Unit 2ndMedical Faculty of Charles University
Slide 2-

Neuromuscular disorders Radiculopathies Plexopathies Mononeuropathies Polyneuropathies Motoneuron diseases Myopathies Disorders of the neuromuscular junction
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Symptoms of muscle disease Muscle fatigue, exercise intolerance in general Proximal and symmetric weakness Waddling gait; difficulty of rising from sitting, climbing stairs; Gower’s sign Hyperextension of the knee Increased lordosis of the lumbar spine, scoliosis Contractures, tight Achilles tendons Myopathic face Muscle atrophy; pseudohypertrophy of calf Myotonia Tendon reflexes are normal or decreased
Slide 4-

Diagnosis of muscle diseases Creatinine kinase levels increased in many myopathies (sign of muscle fiber necrosis) ENG / EMG: differentiation between neurogenic and myogenic weakness Muscle biopsy: signs of muscle fiber abnormality, inflammation, immunostaining of muscle constituents Genetic testing
Slide 5-

Is it really myopathy ?
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Types of muscle diseases Hereditary muscle diseases Muscle dystrophies Muscle channelopathies Mitochondrial myopathies Metabolic myopathies Acquired muscle diseases Inflammatory myopathies Endocrine and toxic myopathies Infectious muscle diseases
Slide 7-

Muscle dystrophies Hereditary myopathies, characterized by progressive weakness and muscle atrophy Genetic defect of proteins constituting the sarcolemma-associated cytoskeleton system
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Duchenne muscular dystrophy Dystrophinopathy First described in 1881- dystrophin gene discovered in the early 1980's Cause: deficiency of dystrophin, resulting in progressive loss of muscle fibers Becker’s type: reduced amount of dystrophin; more benign course X-chromosome linked 1 in 3500 live births, occurs in boys, girls are carriers
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Completely irrelevant side note Duchenne investigated facial expression in a crude but effective manner of ‘shocking’ the facial muscles using galvanic current – defined “facial expressions”
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Duchenne muscular dystrophy Diagnosis: Lack of immunostaining of dystrophin in muscle biopsy specimen Demonstration of deletion in the dystrophin gene Normal Duchenne dystrophy
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Duchenne muscular dystrophy Onset at 3-5 years Initial symptoms: difficulty getting up from deep position and climbing steps, waddling gait Weakness most pronounced in limb-girdle muscles, trunk erectors; craniobulbar muscles are spared Skeletal deformities Cardiomyopathy Inability to walk by 9-11 years Death occurs usually in the 3rd decade, from respiratory insufficiency
Slide 12-

Duchenne muscular dystrophy Gower’s sign
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Gowers’ Maneuver
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Progressive disease course
Slide 15-

Becker´s dystrophinopathy
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Myotonic dystrophy 1 Prevalence: 1 in 8000 Cause: CTG repeat expansion in a gene on chr. 19 Autosomal dominant inheritance, with anticipation Multisystemic disease: Myotonia: hyperexcitability of muscle membrane  inability of quick muscle relaxation Progressive muscular weakness and wasting, most prominent in cranial and distal muscles Cataracts, frontal balding, testicular atrophy Cardiac abnormalities, mental retardation
Slide 17-

Myotonic dystrophy 1
Slide 18-

Myotonic dystrophy 1
Slide 19-

Limb-girdle dystrophies Causes: Sarcoglycanopathies Calpain deficiency Caveolin deficiency Dysferlin deficiency etc. Sarcoglycanopathies comprise about 10% of autosomal recessive limb-girdle dystrophies α, β, γ, δ sarcoglycans
Slide 20-

LGMD 2A – mild symptoms
Slide 21-

LGMD2A – moderate symptoms
Slide 22-

Muscle dystrophy LGMD 2I Mutation of FKRP gene
Slide 23-

Facioscapulohumeral dystrophy Prevalence: 1 in 20,000 Autosomal dominant Age of onset: infancy to middle age Progressive muscular weakness and atrophy involving the face, scapular, proximal arm and peroneal muscles  myopathic face, winging of the scapula, inability to raise the arms, foot drop Life span is not significantly affected
Slide 24-

FSHD
Slide 25-

FSHD - video
Slide 26-

Muscle channelopathies
Slide 27-

Myotonia congenita Mutation in the muscle Cl- gene autosomal dominant form: Thomsen autosomal recessive form: Becker Symptoms: Myotonia (hyperexcitability of the muscle membrane): muscle stiffness and abnormal muscle relaxation, warm-up phenomenon Hypertrophied muscles Therapy: phenytoin, mexiletin
Slide 28-

Myotonia congenita
Slide 29-

Inflammatory muscle diseases Dermatomyositis Polymyositis Inclusion body myositis Other systemic autoimmun diseases (SLE, Sjögren sy. etc.)
Slide 30-

Dermatomyositis Humorally mediated autoimmune disease affecting the muscles and skin (microangiopathy) Symptoms progress over weeks, months Rash on the face and neck Periorbital oedema Pain and weakness of proximal limb muscles, neck flexors Dysphagia Cardiac abnormalities, interstitial lung disease Often paraneoplastic
Slide 31-

Dermatomyositis
Slide 32-

Dermatomyositis
Slide 33-

Polymyositis Cell-mediated immune response against muscle fibers Symptoms are similar to DM, no skin involvement Less often paraneoplastic than DM
Slide 34-

Diagnosis / therapy of DM, PM Blood CK levels are elevated EMG: myogenic findings Muscle biopsy: inflammation DM: perivascular infiltration, mainly in the perimysium PM: endomysial inflammation Therapy: immunosuppression, long-term treatment with corticosteroids (1 mg/kg/day)
Slide 35-

Endocrine and toxic myopathies Toxic myopathies: Drugs aimed at reducing blood lipid levels: statins, clofibrate Corticosteroids – steroid myopathy Alcohol in a couple of days Heroin
Slide 36-

Endocrine and toxic myopathies Endocrine myopathies Thyreotoxic myopathy Hypothyreodism Hyperparathyreodism Adrenal insufficiency Hypokalemia
Slide 37-

Disorders of the Neuromuscular Junction Myasthenia gravis
Slide 38-

Definition An autoimmune disease due to an antibody mediated attack directed against nicotinic AchR at neuromuscular junction 10% have thymoma 70% have thymic hyperplasia
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Slide 40-

40 Synaptic antigens nerve muscle VGCC AChR MuSK
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Epidemiology Incidence 1 : 20 000 in USA Women slightly higher incidence 3 : 2 Majority of the MG are young women in the third decade and middle aged men in 5th and 6th decade Children account for 11% of all patients with MG
Slide 42-

Clinical Features Fluctuated muscle weakness and excessive fatiguability Diplopia and ptosis Bulbar weakness – swalloving, dysarthria Generalized weakness of the trunk and extremities
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Slide 44-

Diagnostic algorhitm Electromyography Anti AChR antibodies MR of mediastinum – thymomas, hyperplasia
Slide 45-

Low frequency stimulation - decrement
Slide 46-

Treatment Thymectomy Plasma exchange in myasthenic crisis (TPE) Human immune globuline (IvIg) Corticosteroids + cytostatics AChE inhibitors (pyridostigmine, distigmine)
Slide 47-

Myasthenic crisis Respiratory insuficiency – paralysis of respiratory muscles Assisted ventilation required Affect 15-20% myasthenic patients Females : males = 2 : 1 Average age : 55 years
Slide 48-

Clinical features Respiratory tract infection, pneumonia ( 38%) Respiratory failure 99% Oropharyngeal or ocular weakness 86% Arms and legs weakness 76%
Slide 49-

Complication of crisis Ateletactic pneumonia (40%) Hypotension Cardio-respiratory arrest Pneumothorax
Slide 50-

Treatment ICU is required for assisted ventilation Cardiopulmonary monitoring Plasmapheresis ( 5 sessions) or IvIg 2g/kg in five consecutive days Antithrombotic treatment Antibiotics Respiratory rehabilitation
Slide 51-

Outcome Duration of intubation : 13 days Duration of hospitalization : 35 days Tracheostomy cca 40% Mortality cca 4%